PRSS1

Summary

Gene Symbol: PRSS1
Description: serine protease 1
Alias: TRP1, TRY1, TRY4, TRYP1, trypsin-1, TCR V beta 4.1, beta-trypsin, cationic trypsinogen, digestive zymogen, nonfunctional trypsin 1, protease, serine 1, trypsinogen 1, trypsinogen A
Species: human
Products:     PRSS1

Top Publications

  1. Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterology. 1999;117:7-10 pubmed
    ..Recently, two mutations of the cationic trypsinogen gene were found in families with hereditary pancreatitis...
  2. Chen J, Piepoli Bis A, Le Bodic L, Ruszniewski P, Robaszkiewicz M, Deprez P, et al. Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis. Clin Genet. 2001;59:189-93 pubmed
    Several missense mutations, including R122H, N29I, K23R, A16V and D22G, in the cationic trypsinogen gene (PRSS1), have been associated with certain forms of hereditary pancreatitis (HP)...
  3. Chen J, Raguenes O, Ferec C, Deprez P, Verellen Dumoulin C. A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis. J Med Genet. 2000;37:E36 pubmed
  4. Rebours V, Boutron Ruault M, Schnee M, Ferec C, Le Marechal C, Hentic O, et al. The natural history of hereditary pancreatitis: a national series. Gut. 2009;58:97-103 pubmed publisher
    ..Inclusion criteria were the presence of mutation in the cationic trypsingen gene (PRSS1 gene), or chronic pancreatitis in at least two first-degree relatives, or three second-degree relatives, in the ..
  5. Le Marechal C, Bretagne J, Raguenes O, Quere I, Chen J, Ferec C. Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1). Mol Genet Metab. 2001;74:342-4 pubmed
    Over the past 5 years, several gain-of-function missense mutations in the human cationic trypsinogen gene (PRSS1, OMIM 276000) have been associated with hereditary and/or sporadic pancreatitis...
  6. Teich N, Bauer N, Mossner J, Keim V. Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. Am J Gastroenterol. 2002;97:341-6 pubmed
    Mutations of the cationic trypsinogen (CT) and the serine protease inhibitor, Kazal type 1 (SPINK 1) are associated with chronic pancreatitis...
  7. Mora J, Comas L, Ripoll E, Gonçalves P, Queraltó J, González Sastre F, et al. Genetic mutations in a Spanish population with chronic pancreatitis. Pancreatology. 2009;9:644-51 pubmed publisher
    Mutations in the PRSS1 and the SPINK1 genes have variably been associated with alcohol-related, idiopathic and hereditary chronic pancreatitis (CP)...
  8. Bhatia E, Choudhuri G, Sikora S, Landt O, Kage A, Becker M, et al. Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations. Gastroenterology. 2002;123:1020-5 pubmed
    ..Samples were analyzed for SPINK1 variants (-53C>T, L14P, N34S, P55S, and 272T>C) and cationic trypsinogen (PRSS1) variants (A16V, K23R, N29I, and R122H) by melting curve analysis...
  9. Howes N, Lerch M, Greenhalf W, Stocken D, Ellis I, Simon P, et al. Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol. 2004;2:252-61 pubmed
    Hereditary pancreatitis is an autosomal dominant disease that is mostly caused by cationic trypsinogen (PRSS1) gene mutations. The aim was to determine phenotype-genotype correlations of families in Europe...

More Information

Publications85

  1. Sobczynska Tomaszewska A, Bak D, Oralewska B, Oracz G, Norek A, Czerska K, et al. Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis. J Pediatr Gastroenterol Nutr. 2006;43:299-306 pubmed
    Defects of PRSS1, SPINK1, CFTR and AAT are considered causative or predisposing to pancreatitis...
  2. Chen J, Montier T, Ferec C. Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations. Hum Genet. 2001;109:245-52 pubmed
    Since the identification in 1996 of a "gain of function" missense mutation, R122H, in the cationic trypsinogen gene (PRSS1) as a cause of hereditary pancreatitis, continued screening of this gene in both hereditary and sporadic ..
  3. Chen J, Kukor Z, Le Maréchal C, Toth M, Tsakiris L, Raguenes O, et al. Evolution of trypsinogen activation peptides. Mol Biol Evol. 2003;20:1767-77 pubmed
    ..D22G and K23R) were simultaneously analyzed, for the first time, in the context of recombinant human cationic trypsinogen. A dramatic increase in autoactivation of cationic trypsinogen was observed in all three mutants, with D22G ..
  4. Liu Q, Gao F, Ou Q, Zhuang Z, Lin S, Yang B, et al. Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. Chin Med J (Engl). 2008;121:108-11 pubmed
    Mutations in the cationic trypsinogen gene (PRSS1) have been detected in patients with hereditary pancreatitis (HP). This study investigated the prevalence of the R122H (c.365 G > A), A121T (c.361 G > A) and D162D (c...
  5. Pfutzer R, Myers E, Applebaum Shapiro S, Finch R, Ellis I, Neoptolemos J, et al. Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. Gut. 2002;50:271-2 pubmed
    Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I. We sequenced the PRSS1 gene in the proband of families without these common mutations...
  6. Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006;33:221-7 pubmed
    ..It is well documented that mutations in the cationic trypsinogen (PRSS1) gene can cause hereditary pancreatitis...
  7. Sahin Toth M, Kukor Z, Nemoda Z. Human cationic trypsinogen is sulfated on Tyr154. FEBS J. 2006;273:5044-50 pubmed
    ..Furthermore, incorporation of [(35)S]SO(4) into human cationic trypsinogen transiently expressed by human embryonic kidney 239T cells was demonstrated...
  8. Masson E, Le Maréchal C, Chandak G, Lamoril J, Bezieau S, Mahurkar S, et al. Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis. Clin Gastroenterol Hepatol. 2008;6:82-8 pubmed
    ..reported that the triplication of a approximately 605 kilobase segment containing the PRSS1 (encoding cationic trypsinogen) and PRSS2 (encoding anionic trypsinogen) genes causes hereditary pancreatitis...
  9. Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bodeker H, et al. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?. Gut. 2013;62:582-92 pubmed publisher
    ..660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) ..
  10. Nakanuma S, Tajima H, Okamoto K, Hayashi H, Nakagawara H, Onishi I, et al. Tumor-derived trypsin enhances proliferation of intrahepatic cholangiocarcinoma cells by activating protease-activated receptor-2. Int J Oncol. 2010;36:793-800 pubmed
    ..In addition, stroma fibroblasts expressed PAR-2 in 52% of ICC specimens. These results suggest that trypsinogen-1 contributes to the growth of ICC cells and also tumor-associated fibroblasts. ..
  11. Lee Y, Kim K, Choi J, Lee B, Kim G, Yoo H. High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr. 2011;52:478-81 pubmed publisher
    We evaluated the frequencies and clinical consequences of mutations in the genes encoding cationic trypsinogen, serine protease 1 (PRSS1), and serine protease inhibitor Kazal type 1 (SPINK1) in children with acute recurrent pancreatitis (..
  12. Gaboriaud C, Serre L, Guy Crotte O, Forest E, Fontecilla Camps J. Crystal structure of human trypsin 1: unexpected phosphorylation of Tyr151. J Mol Biol. 1996;259:995-1010 pubmed
    The X-ray structure of human trypsin 1 has been determined in the presence of diisopropyl-phosphofluoridate by the molecular replacement method and refined at a resolution of 2.2 A to an R-factor of 18%...
  13. Whitcomb D, Gorry M, Preston R, Furey W, Sossenheimer M, Ulrich C, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996;14:141-5 pubmed
    ..We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype...
  14. Teich N, Ockenga J, Hoffmeister A, Manns M, MOssner J, Keim V. Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation. Gastroenterology. 2000;119:461-5 pubmed
    Mutations of the cationic trypsinogen have been described in hereditary pancreatitis. We report a new trypsinogen mutation in the activation peptide of the proenzyme in a family with chronic pancreatitis...
  15. Chen J, Ferec C. Molecular basis of hereditary pancreatitis. Eur J Hum Genet. 2000;8:473-9 pubmed
    ..Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP...
  16. Witt H, Luck W, Hennies H, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 2000;25:213-6 pubmed
    ..Several studies have demonstrated mutations in the cationic trypsinogen gene (PRSS1) in patients with hereditary or idiopathic CP...
  17. O Reilly D, Yang B, Creighton J, Demaine A, Kingsnorth A. Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis. Digestion. 2001;64:54-60 pubmed
    Mutations in the cationic trypsinogen gene have been detected in patients with hereditary pancreatitis (HP)...
  18. Grocock C, Rebours V, Delhaye M, Andren Sandberg A, Weiss F, Mountford R, et al. The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families. Gut. 2010;59:357-63 pubmed publisher
    To characterise the phenotypes associated with the p.A16V mutation of PRSS1. Clinical and epidemiological data were collected for any family in which a p...
  19. Chandak G, Idris M, Reddy D, Mani K, Bhaskar S, Rao G, et al. Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. Gut. 2004;53:723-8 pubmed
    Mutations in the cationic trypsinogen (protease, serine, 1 (trypsin 1); PRSS1) gene are causally associated with recurrent acute and chronic pancreatitis...
  20. Gorry M, Gabbaizedeh D, Furey W, Gates L, Preston R, Aston C, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology. 1997;113:1063-8 pubmed
    We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature ..
  21. Teich N, Le Maréchal C, Kukor Z, Caca K, Witzigmann H, Chen J, et al. Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). Hum Mutat. 2004;23:22-31 pubmed
    ..To date, 19 genetic variants have been identified in the cationic trypsinogen gene (PRSS1) of patients with hereditary, familial, or sporadic chronic pancreatitis...
  22. Perri F, Piepoli A, Stanziale P, Merla A, Zelante L, Andriulli A. Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis. Eur J Hum Genet. 2003;11:687-92 pubmed
    Susceptibility to alcoholic chronic pancreatitis (ACP) could be genetically determined. Mutations in cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), and serine protease inhibitor, Kazal type 1 (..
  23. Ferec C, Raguenes O, Salomon R, Roche C, Bernard J, Guillot M, et al. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. J Med Genet. 1999;36:228-32 pubmed
    ..Our findings confirm the implication of the cationic trypsinogen gene in HP and highlight allelic diversity associated with this phenotype...
  24. Le Marechal C, Chen J, Quere I, Raguenes O, Ferec C, Auroux J. Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography. BMC Genet. 2001;2:19 pubmed
    R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature trypsin activation within the pancreas...
  25. Simon P, Weiss F, Sahin Toth M, Parry M, Nayler O, Lenfers B, et al. Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen. J Biol Chem. 2002;277:5404-10 pubmed
    Hereditary pancreatitis has been found to be associated with germline mutations in the cationic trypsinogen (PRSS1) gene. Here we report a family with hereditary pancreatitis that carries a novel PRSS1 mutation (R122C)...
  26. Bernardino A, Guarita D, Mott C, Pedroso M, Machado M, Laudanna A, et al. CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients. JOP. 2003;4:169-77 pubmed
    Mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in cationic trypsinogen (PRSS1) and in serine protease inhibitor Kazal type 1 (SPINK1) genes have been associated with chronic pancreatitis (alcohol related, ..
  27. Gasiorowska A, Talar Wojnarowska R, Czupryniak L, Smolarz B, Romanowicz Makowska H, Kulig A, et al. The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis. Dig Dis Sci. 2011;56:894-901 pubmed publisher
    ..Mutations of the PRSS1 and SPINK 1 have been mostly implicated in hereditary and idiopathic CP, but their presence in other types of this ..
  28. Sánchez Ramírez C, Flores Martinez S, García Zapién A, Montero Cruz S, Larrosa Haro A, Sanchez Corona J. Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis. Pancreas. 2012;41:707-11 pubmed publisher
    The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients...
  29. Felderbauer P, Karakas E, Fendrich V, Bulut K, Horn T, Lebert R, et al. Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the SPINK1 trypsin inhibitor (N34S) and the cystic fibrosis gene. Am J Gastroenterol. 2008;103:368-74 pubmed
    ..were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing...
  30. Hu C, Wen L, Deng L, Zhang C, Lugea A, Su H, et al. The Differential Role of Human Cationic Trypsinogen (PRSS1) p.R122H Mutation in Hereditary and Nonhereditary Chronic Pancreatitis: A Systematic Review and Meta-Analysis. Gastroenterol Res Pract. 2017;2017:9505460 pubmed publisher
    ..The PRSS1 p.R122H mutation was the first discovered to affect hereditary CP, with 80% penetrance...
  31. Polonikov A, Samgina T, Nazarenko P, Bushueva O, Ivanov V. Alcohol Consumption and Cigarette Smoking are Important Modifiers of the Association Between Acute Pancreatitis and the PRSS1-PRSS2 Locus in Men. Pancreas. 2017;46:230-236 pubmed publisher
    ..investigate whether the susceptibility to acute pancreatitis (AP) attributable to polymorphism rs10273639 at the PRSS1-PRSS2 locus is dependent on alcohol consumption and cigarette smoking...
  32. Szabo A, Sahin Toth M. Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. J Biol Chem. 2012;287:20701-10 pubmed publisher
    Mutations in human cationic trypsinogen (PRSS1) cause autosomal dominant hereditary pancreatitis. Increased intrapancreatic autoactivation of trypsinogen mutants has been hypothesized to initiate the disease...
  33. Raty S, Piironen A, Babu M, Pelli H, Sand J, Uotila S, et al. Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis. Scand J Gastroenterol. 2007;42:1000-5 pubmed
    Mutations in the cationic trypsinogen gene (PRSS1) have been linked with hereditary pancreatitis (HP). A change in R122H in the third exon is one of the mutations most frequently associated with HP...
  34. Derikx M, Kovacs P, Scholz M, Masson E, Chen J, Ruffert C, et al. Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study. Gut. 2015;64:1426-33 pubmed publisher
    ..association of chronic pancreatitis (CP) with variants in PRSS1-PRSS2 (rs10273639; near the gene encoding cationic trypsinogen) and CLDN2-MORC4 loci (rs7057398 in RIPPLY1 and rs12688220 in MORC4)...
  35. Wang Z, Xu S, Du K, Huang F, Chen Z, Zhou K, et al. Evolution of Digestive Enzymes and RNASE1 Provides Insights into Dietary Switch of Cetaceans. Mol Biol Evol. 2016;33:3144-3157 pubmed
    ..e., CYP7A1, CTRC, LIPC, LIPF, PNLIP, PGC, PRSS1, SI, SLC5A1, and TMPRSS15) of representative cetaceans, and the evolutionary trajectory of RNASE1 in ..
  36. Kitahara K, Kawa S, Katsuyama Y, Umemura T, Ozaki Y, Takayama M, et al. Microsatellite scan identifies new candidate genes for susceptibility to alcoholic chronic pancreatitis in Japanese patients. Dis Markers. 2008;25:175-80 pubmed
    ..were detected in association with previously reported susceptibility genes for chronic pancreatitis, such as PRSS1, PRSS2, CTRC, SPINK1, CFTR, ALDH2, and CYP2E1...
  37. Bauer B, Rossington D, Mollapour M, Mamnun Y, Kuchler K, Piper P. Weak organic acid stress inhibits aromatic amino acid uptake by yeast, causing a strong influence of amino acid auxotrophies on the phenotypes of membrane transporter mutants. Eur J Biochem. 2003;270:3189-95 pubmed
    ..to yeast mutants lacking the Pdr12p and Azr1p plasma membrane transporters is an artefact arising from the use of trp1 mutant strains...
  38. Felderbauer P, Schnekenburger J, Lebert R, Bulut K, Parry M, Meister T, et al. A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site. J Med Genet. 2008;45:507-12 pubmed publisher
    ..risk factors for chronic pancreatitis increased in the last decade with the discovery of mutations in the cationic trypsinogen gene (PRSS1)...
  39. Gullo L, Laghi L, Migliori M, Lucrezio L, Bianchi P, Randolph A, et al. SPINK1 and PRSS1 mutations in benign pancreatic hyperenzymemia. Pancreas. 2008;37:31-5 pubmed publisher
    The aim of this study was to determine whether mutations in SPINK1/PRSS1 genes are associated with benign pancreatic hyperenzymemia (BPH). Sixty-eight subjects with BPH (including 13 familial cases) were studied...
  40. Graf R, Schiesser M, Scheele G, Marquardt K, Frick T, Ammann R, et al. A family of 16-kDa pancreatic secretory stress proteins form highly organized fibrillar structures upon tryptic activation. J Biol Chem. 2001;276:21028-38 pubmed
    ..Dense extracellular matrices, composed of helical thread proteins organized into higher ordered matrix structures, may serve physiological functions within luminal compartments in the exocrine pancreas. ..
  41. Oh H, Kim M, Choi K, Moon S, Park D, Lee S, et al. Analysis of PRSS1 and SPINK1 mutations in Korean patients with idiopathic and familial pancreatitis. Pancreas. 2009;38:180-3 pubmed publisher
    b>PRSS1 and SPINK1 are 2 important genes in the defense mechanism guarding against the development of pancreatitis...
  42. Giefer M, Lowe M, Werlin S, Zimmerman B, Wilschanski M, Troendle D, et al. Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. J Pediatr. 2017;186:95-100 pubmed publisher
    ..Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P?<?.01), chymotrypsin C (CTRC) (P?=?.01), family history of acute pancreatitis (P?=?...
  43. Huntington J, Read R, Carrell R. Structure of a serpin-protease complex shows inhibition by deformation. Nature. 2000;407:923-6 pubmed
    ..It is this ability of the conformational mechanism to crush as well as inhibit proteases that provides the serpins with their selective advantage. ..
  44. Rebours V, Boutron Ruault M, Schnee M, Ferec C, Maire F, Hammel P, et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol. 2008;103:111-9 pubmed publisher
    ..mutation in the PRSS1 gene or recurrent, acute, or chronic pancreatitis, with no precipitating factors in two first-degree relatives or &..
  45. Corleto V, Gambardella S, Gullotta F, D Apice M, Piciucchi M, Galli E, et al. New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?. BMC Gastroenterol. 2010;10:119 pubmed publisher
    ..Mutation screening for coding regions of PRSS1, SPINK1, CFTR and the new hereditary pancreatitis-associated chymotrypsin C (CTRC) genes showed a novel variation, ..
  46. Masson E, Chen J, Audrezet M, Cooper D, Ferec C. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. PLoS ONE. 2013;8:e73522 pubmed publisher
    ..intron/exon boundaries) and gross genomic rearrangements were screened for in all four major pancreatitis genes, PRSS1, SPINK1, CTRC and CFTR...
  47. Avanthi U, Bale G, Aslam M, Talukdar R, Duvvur N, Vishnubhotla R. PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype. Indian J Gastroenterol. 2018;37:67-69 pubmed publisher
    Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities...
  48. Mägert H, Ständker L, Kreutzmann P, Zucht H, Reinecke M, Sommerhoff C, et al. LEKTI, a novel 15-domain type of human serine proteinase inhibitor. J Biol Chem. 1999;274:21499-502 pubmed
    ..From these results, we assume that LEKTI may play a role in anti-inflammatory and/or antimicrobial protection of mucous epithelia. ..
  49. Weiss F, Zenker M, Ekici A, Simon P, Mayerle J, Lerch M. Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany. Am J Gastroenterol. 2008;103:2585-8 pubmed publisher
    The R122H mutation represents the most common point mutation of the cationic trypsinogen gene (PRSS1) in patients with hereditary pancreatitis (HP; Online Mendelian inheritance in man [OMIM] 167800), a rare variety of chronic pancreatitis...
  50. Jani P, Schwaner E, Kajdacsi E, Debreczeni M, Ungai Salánki R, Dobó J, et al. Complement MASP-1 enhances adhesion between endothelial cells and neutrophils by up-regulating E-selectin expression. Mol Immunol. 2016;75:38-47 pubmed publisher
    ..This newly described cooperation between complement lectin pathway and neutrophils via endothelial cells may be an effective tool to enhance the antimicrobial immune response. ..
  51. Giri A, Midha S, Banerjee P, Agrawal A, Mehdi S, Dhingra R, et al. Common Variants in CLDN2 and MORC4 Genes Confer Disease Susceptibility in Patients with Chronic Pancreatitis. PLoS ONE. 2016;11:e0147345 pubmed publisher
    A recent genome-wide association study (GWAS) identified association with variants in X-linked CLDN2 and MORC4, and PRSS1-PRSS2 loci with chronic pancreatitis (CP) in North American patients of European ancestry...
  52. Pollard S, Meier W, Chow P, Rosa J, Wiley D. CD4-binding regions of human immunodeficiency virus envelope glycoprotein gp120 defined by proteolytic digestion. Proc Natl Acad Sci U S A. 1991;88:11320-4 pubmed
  53. Chang Y, Wei S, L P, Tien Y, Jan I, Su Y, et al. Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects. Gut. 2009;58:885 pubmed publisher
  54. Pihl R, Jensen L, Hansen A, Thøgersen I, Andres S, Dagnæs Hansen F, et al. Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement. J Immunol. 2017;: pubmed publisher
    ..In summary, our observations emphasize that MASP-3 acts as an important maturase in the AP of complement, while also highlighting that there exists MASP-3-independent pro-FD maturation in 3MC patients. ..
  55. Baptista A, Jonson P, Hough E, Petersen S. The origin of trypsin: evidence for multiple gene duplications in trypsins. J Mol Evol. 1998;47:353-62 pubmed
    ..This ancestral trypsin gene was subsequently duplicated, leading to the earliest version of a full-sized trypsin, from which the contemporary trypsins have developed. ..
  56. Poddar U, Yachha S, Mathias A, Choudhuri G. Genetic predisposition and its impact on natural history of idiopathic acute and acute recurrent pancreatitis in children. Dig Liver Dis. 2015;47:709-14 pubmed publisher
    ..Common mutations for serine-protease-inhibitor (SPINK1 N34S), protease-inhibitor (PRSS1 R122H) and cystic fibrosis transmembrane conductance regulator (CFTR DeltaF508, 5T) were analysed. Mean age was 13...
  57. Kereszturi E, Sahin Toth M. Intracellular autoactivation of human cationic trypsinogen mutants causes reduced trypsinogen secretion and acinar cell death. J Biol Chem. 2009;284:33392-9 pubmed publisher
    Mutations in the activation peptide of human cationic trypsinogen have been found in patients with chronic pancreatitis. Previous biochemical studies demonstrated that mutations p.D19A, p.D22G, and p...
  58. Shieh B, Travis J. The reactive site of human alpha 2-antiplasmin. J Biol Chem. 1987;262:6055-9 pubmed
  59. Nashat M, Luchins K, Lepherd M, Riedel E, Izdebska J, Lipman N. Characterization of Demodex musculi Infestation, Associated Comorbidities, and Topographic Distribution in a Mouse Strain with Defective Adaptive Immunity. Comp Med. 2017;67:315-329 pubmed
    A colony of B6.Cg-Rag1tm1Mom Tyrp1B-w Tg(Tcra,Tcrb)9Rest (TRP1/TCR) mice presented with ocular lesions and ulcerative dermatitis. Histopathology, skin scrapes, and fur plucks confirmed the presence of Demodex spp...
  60. Chang M, Jan I, Liang P, Jeng Y, Yang C, Tien Y, et al. Human cationic trypsinogen but not serine peptidase inhibitor, Kazal type 1 variants increase the risk of type 1 autoimmune pancreatitis. J Gastroenterol Hepatol. 2014;29:2038-42 pubmed publisher
    ..Whether the genes involved in pancreatic acinar cell injury, cationic trypsinogen gene (protease, serine, 1 [trypsin 1] [PRSS1]) and the pancreatic secretory trypsin inhibitor gene (serine ..
  61. Szabo A, Radisky E, Sahin Toth M. Zymogen activation confers thermodynamic stability on a key peptide bond and protects human cationic trypsin from degradation. J Biol Chem. 2014;289:4753-61 pubmed publisher
    Human cationic trypsinogen, precursor of the digestive enzyme trypsin, can be rapidly degraded to protect the pancreas when pathological conditions threaten, while trypsin itself is impressively resistant to degradation...
  62. Hamoir C, Pepermans X, Piessevaux H, Jouret Mourin A, Weynand B, Habyalimana J, et al. Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants. Digestion. 2013;87:229-39 pubmed publisher
    ..Genetically determined pancreatitis is associated with mutations in the PRSS1,SPINK1 and CFTR genes...
  63. Gou S, Yu J, Wang C, Liu T, Cui P, Li X. Three female familial cases of solid pseudopapillary tumors with a protease serine 1 gene mutation. Pancreas. 2013;42:168-73 pubmed publisher
    ..A Leu104Val mutation of protease serine 1 (PRSS1) was observed in the familial patients and 2 healthy male family members; no ?-catenin or adenomatous polyposis ..
  64. Teich N, Nemoda Z, Kohler H, Heinritz W, Mossner J, Keim V, et al. Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. Hum Mutat. 2005;25:343-7 pubmed
    ..Chronic pancreatitis in childhood is frequently associated with mutations of the cationic trypsinogen gene (serine protease 1; PRSS1)...
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    Mutations in the PRSS1 gene encoding human cationic trypsinogen are associated with hereditary and sporadic chronic pancreatitis...
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    ..3%; OR 14, 95% CI 6.9-28.3; p < 0.001). G191R PRSS2 is a rare allele in the Indian population and the data suggest a nonsignificant trend towards a protective effect. N34S SPINK1 represents the major genetic risk factor in TCP. ..
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    Mutations in human cationic trypsinogen cause hereditary pancreatitis by altering its proteolytic regulation of activation and degradation by chymotrypsin C (CTRC)...
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    Autosomal dominant hereditary pancreatitis has been conclusively linked with cationic trypsinogen (PRSS1) mutations p.R122H and p.N29I, which can be found in approximately 90% of mutation-positive cases...